ORPHA:199318 15q13.3 microdeletion syndrome Q93.5
Conditions
Interventions
Group 1: We plan to perform detailed clinical, genetic and electrophysiological (BNA) characterization of at least 15 individuals with 15q13.3 microdeletion and 15 individuals with 15q13.3 microduplic
Sponsors
Institute of Human Genetics, University Hospital Heidelberg
Eligibility
Sex/Gender
All
Age
10 Years to No maximum
Inclusion criteria
Inclusion criteria: Patients from Dr. Schaaf (Heidelberg University) and Dr.van Bon (The Radboud university medical center, Nijmegen, The Netherlands) with a pre-existing clinical diagnosis of one of the following genetic conditions: 1.15q13.3 deletion 2. 15q13.3 duplication, and confirmation of a 15q13.3 CNV using a clinical microarray. For minors and adult participants incapable of consent: written informed consent for study participation from the parents or guardian(s). For adult participants: written informed consent for study participation, if capable or, in case incapacibility for consent, informed consent for study participation from the legal representative(s).
Exclusion criteria
Exclusion criteria: No written consent to study participation by the subject/patient/guardian. Withdrawal from study participation by the subject/patient/guardian.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The purpose of this study is to investigate correlations between 15q13.3 copy number, clinical severity as measured by intelligence quotient (IQ), and electrophysiological alterations measurable by brain network analysis (BNA) on individuals with 15q13.3 CNVs. | — |
Secondary
| Measure | Time frame |
|---|---|
| These investigations will shed light into the dosage-dependency of the 15q13.3 locus, determine genotype-phenotype correlations, and could provide a quantifiable outcome measure for therapeutic interventions. | — |
Countries
Germany
Contacts
Public ContactCamila Gabriel
Institut für Humangenetik
Outcome results
None listed